Ruizhi Liu

Male infertility in China: laboratory finding for AZF microdeletions and chromosomal abnormalities in infertile men from Northeastern China

PurposesTo investigate the frequencies of AZF microdeletions and chromosomal abnormalities in infertile men from Northeastern China. Moreover, to compare the prevalence of these abnormalities with other countries and regions in the world.Methods305 infertile men were enrolled. A complete semen analysis and reproductive hormones were measured according to standard methods. Multiplex polymerase chain reaction (PCR) amplification using nine specific sequence-tagged sites (STS) were used to detect AZF microdeletions. Karyotype analyses were performed on peripheral blood lymphocytes with standard G-banding.ResultsOf the 305 infertile men, 28 (9.2%) had AZF microdeletions and 26 (8.5%) had chromosomal abnormalities. The most frequent microdeletions were in the AZFc+d, followed by AZFc, AZFb+c+d and AZFa. A total of 19 patients (82.6%) had Klinefelter′s syndrome (47, XXY) in the azoospermic group.ConclusionsThe freqencies of AZF microdeletions and chromosomal abnormalities in infertile men from Northeastern China were comparable with infertile men from other countries and regions. However, there was a slightly higher prevalence rate of AZF microdeletions in oligozoospermic patients than reported in previous studies.

Seminal plasma zinc level may be associated with the effect of cigarette smoking on sperm parameters.

The aim of this study was to investigate the effect of cigarette smoking on seminal plasma zinc levels and sperm parameters, and to examine the role of seminal plasma zinc. Semen samples from 79 non-smokers and 68 smokers were obtained. There was a significant decrease in seminal plasma zinc in smokers and a clear correlation between seminal plasma zinc levels and the extent of smoking. Sperm parameters (concentration, motility and morphology) among smokers were significantly lower in comparison to non-smokers. These parameters were also significantly decreased among smokers with abnormal zinc levels, while there was no significant difference between non-smokers with normal zinc and non-smokers with abnormal zinc levels. As previous studies have shown that seminal plasma zinc is associated with a decrease of anti-oxidant defences, seminal plasma zinc could be a contributor to the effects of cigarette smoking on sperm parameters. In conclusion, cigarette smoking can affect sperm parameters and this study may help towards providing a mechanistic explanation.

Impact of chromosomal translocations on male infertility, semen quality, testicular volume and reproductive hormone levels.

Objective: To analyse the relationship between male infertility and chromosomal translocations, and the influence of different types of chromosomal translocations on semen quality, testicular volume and hormone levels. Methods: A retrospective cohort of infertile men was recruited for chromosomal analysis using standard Giemsa stain banding. Physical examinations, semen analysis, hormonal analysis and the detection of azoospermia factor (AZF) microdeletions were carried out. Men with normal fertility were used as controls. Results: Among the 1056 infertile men, 22 had chromosomal translocations (2.1%), including seven with Robertsonian translocations (0.7%), 11 with autosome- autosome reciprocal translocations (1.0%) and four with gonosome-autosome reciprocal translocations (0.4%). Left and right testicular volumes of patients with chromosomal translocations were significantly smaller than those in the fertile control group. There were no significant differences in hormone levels between patients with chromosomal translocations and fertile controls, except for significantly lower testosterone levels in patients with Robertsonian and gonosome- autosome reciprocal translocations compared with the controls. All AZF microdeletion analyses showed normal results. Conclusions: Chromosomal translocations may cause reductions in testicular volume and testosterone level, which may impact spermatogenesis, resulting in azoospermia or oligozoospermia and male infertility.

Male infertility in Northeast China: a cytogenetic study of 135 patients with non-obstructive azoospermia and severe oligozoospermia.

PurposesTo detect the frequency and types of chromosomal anomalies with non-obstructive azoospermia and severe oligozoospermia in Northeast China, and to compare the frequencies with other regions of China and the world. To investigate the general characteristics of this population.MethodsEighty-one men with non-obstructive azoospermia and 54 men with severe oligozoospermia were recruited. Karyotype analyses were performed on peripheral blood lymphocytes using standard G-banding. Measurements of follicle-stimulating hormone, testosterone, prolactin, and inhibin B were obtained.ResultsThe frequency of chromosomal anomalies for patients with non-obstructive azoospermia (17.28%) was comparable with studies from Europe, Africa, Asia, and other regions of China. However, the frequency for patients with severe oligozoospermia (9.26%) was slightly higher than reported from other Asian countries. The infertile men were more likely than the fertile to smoke and consume alcohol, and to have significantly lower levels of inhibin B.ConclusionsFor infertile men in Northeast China, chromosome analysis is a necessary part of routine genetic testing, and the contributing effects of high smoking and alcohol consumption rates of this population should be discussed during genetic counseling.

Effect of chromosomal polymorphisms of different genders on fertilization rate of fresh IVF-ICSI embryo transfer cycles.

To explore whether chromosomal polymorphisms of different genders affect outcomes of fresh IVF and intracytoplasmic sperm injection (ICSI) embryo transfer cycles differently, 37 couples with chromosomal polymorphisms were identified out of 614 infertile couples undergoing IVF-ICSI treatments. Group 1 included 20 couples in which only the male carried chromosomal polymorphisms; group 2 included 17 couples with female carriers only; group 3 included 19 infertile couples with normal karyotypes randomly selected as controls. A significantly lower fertilization rate was found in group 1 compared with groups 2 and 3 (56.68% in Group 1, 78.02% in group 2 and 71.74% in group 3; group 1 versus group 2, P < 0.001; group 1 versus group 3, P = 0.001; respectively). When stratified according to fertilization method, the fertilization rate in IVF cycles of group 1 was significantly lower than group 3 (50.00% in Group 1, 73.89% in Group 3, P < 0.001). Fertilization rates in ICSI cycles between groups 1 and 3 were not significantly different. This study suggests that male chromosomal polymorphisms adversely influence fertilization rates of IVF cycles. The use of ICSI may improve the success of infertility treatment by increasing the fertilization rate for men with chromosomal polymorphisms.

Ureaplasma urealyticum in Male Infertility in Jilin Province, North-east China, and Its Relationship with Sperm Morphology

This study investigated the effects of Ureaplasma urealyticum infection and raised seminal leucocyte levels on sperm morphology in 967 infertile males and 201 fertile healthy volunteers. U. urealyticum infection led to a significant decrease in the percentage of morphologically normal sperm in infertile males. There was a clear correlation between U. urealyticum infection, raised seminal leucocytes and abnormal sperm morphology. The percentage of morphologically normal sperm was significantly lower in U. urealyticum-positive than U. urealyticum-negative infertile males or fertile controls. The percentage of morphologically normal sperm was lowest in U. urealyticum-positive males with raised seminal leucocytes. Previous studies have found raised seminal leucocyte levels to be associated with reactive oxygen species. The authors suggest that oxidative stress contributes to the effects of U. urealyticum on sperm morphology. In conclusion, U. urealyticum infection can negatively affect sperm morphology and this study provided two possible mechanistic explanations.

Analysis of Y chromosome microdeletion in 1738 infertile men from northeastern China.

OBJECTIVE To determine the frequencies and the characteristics of Y chromosome microdeletion in infertile men from northeastern China to perform appropriate therapeutic choices. MATERIALS AND METHODS The study included 1738 infertile men. Sperm concentration was measured according to standard methods and karyotype analysis was performed on peripheral blood lymphocytes with standard G-banding. Multiplex polymerase chain reaction amplification using 9 specific sequence-tagged sites were selected to detect Y chromosome microdeletions. RESULTS The data showed that the frequency of Y chromosome microdeletion was 8.57%. The most common microdeletion, among the azoospermia factor (AZF) regions, was detected in the AZFc region, followed by AZFb+c, AZFb, AZFa+b+c, AZFa, and AZFa+c. One-hundred seven patients with Y chromosome microdeletion developed azoospermia, 39 developed severe oligozoospermia (sperm concentration ≤5 × 10(6)/mL), and 3 developed moderate oligozoospermia (sperm concentration >5 × 10(6)/mL and ≤10 × 10(6)/mL). Karyotype analysis was available for 130 patients with Y chromosome microdeletion and abnormal karyotypes were found in 19 patients (14.6%). The most frequent abnormal karyotype was 46,X,Yqh-(n = 7). CONCLUSION In northeastern China, Y chromosome microdeletion diagnosis should be performed before the use of intracytoplasmic sperm injection in infertile men with sperm count ≤10 × 10(6)/mL, especially in men with azoospermia.

Complete Azoospermia Factor b Deletion of Y Chromosome in an Infertile Male With Severe Oligoasthenozoospermia: Case Report and Literature Review

OBJECTIVE To report on a male patient with complete deletion of azoospermia factor b (AZFb) who presented with severe oligoasthenozoospermia, but who successfully fathered a child via intracytoplasmic sperm injection (ICSI). MATERIALS AND METHODS Karyotype analysis of peripheral blood lymphocytes was performed by standard G-banding. Y chromosome microdeletions were detected by multiplex polymerase chain reaction amplification using AZF-specific, sequence-tagged site markers. The ICSI procedure was performed using ejaculated motile spermatozoa. RESULTS Cytogenetic analysis of the patient revealed a normal male karyotype, 46,XY. Multiplex polymerase chain reaction screening showed complete deletion of AZFb demonstrated by the absence of specific sequence-tagged site markers sY121, sY127, sY134, and sY143. Following successful ICSI, an ultrasound scan of the patients partner revealed a single pregnancy with cardiac activity. A healthy boy was born by cesarean section at 38 weeks of gestation. Genetic testing 2 years later revealed that the infant had inherited his fathers AZFb deletion. CONCLUSION Evidence from this case supports the fact that carriers of AZFb deletions can sometimes produce spermatozoa and father a son with the same AZFb deletion. This possibility reinforces the need for genetic counseling in patients with Y chromosome microdeletions.

Azoospermia factor microdeletions: occurrence in infertile men with azoospermia and severe oligozoospermia from China

Azoospermia factor (AZF) microdeletions are the most frequent genetic cause of male infertility after Klinefelters syndrome. Although some assisted reproductive techniques such as intracytoplasmic sperm injection (ICSI) have been successfully introduced to clinical treatment for infertile males, the AZF microdeletions might be transmitted from infertile fathers to their male offspring during these procedures. Thus, it is important to carefully evaluate AZF microdeletions in infertile males before assisted reproductive techniques are performed. In this article, we aimed to investigate the frequencies of AZF microdeletions in 137 infertile males with azoospermia and severe oligozoospermia from Jilin province of China and analyse the relationship between the levels of reproductive hormones and AZF microdeletions. Result analysis showed that AZF microdeletions were present in 8 (8.70%) azoospermic males and 3 (6.67%) severely oligozoospermic males. The most frequent microdeletions were detected in the AZFc region, followed by AZFb + c, AZFb and AZFa. And there was no significant correlation between the AZF microdeletion and the levels of reproductive hormones. These findings reinforce the necessity of AZF microdeletion testing among infertile males prior to employment of assisted reproduction techniques in Jilin province of China.

Outcomes of intracytoplasmic sperm injection in oligozoospermic men with Y chromosome AZFb or AZFc microdeletions

We investigated whether the presence of Y chromosome azoospermia factor (AZF) microdeletions impacts upon the outcomes of intracytoplasmic sperm injection (ICSI) using fresh ejaculated spermatozoa. Sixteen oligozoospermia patients with Y chromosome AZFb or AZFc microdeletions and undergoing ICSI cycles between March 2013 and November 2014 were studied. Twenty‐six infertile men with normal Y chromosomes and also undergoing IVF/ICSI in the same time period were used as controls. A retrospective case–control study approach was used. Among the 16 cases, 12 (75%, 12/16) had deletions of AZFc markers (sY152, sY254 and sY255), one (6.25%, 1/16) had a deletion of sY152, and two (12.5%, 2/16) had deletions of sY152, sY254, sY255 and sY157. AZFb microdeletions were found in one patient (6.25%, 1/16). There were no significant differences between groups for cleaved embryo rate, high‐grade embryo rate, blastocyst formation rate, embryo implantation rate, clinical pregnancy rate and delivery rate. The clinical outcomes of ICSI for oligozoospermic patients with Y chromosome AZF microdeletion are comparable to those of infertile patients with normal Y chromosomes. Our findings indicate that ICSI should be offered to patients with an AZFc deletion and that oligozoospermia patients with AZFb microdeletions are likely to father children.